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SALSA MLPA P137 SCN1A KIT
[http://www.geneclinics.org/profiles/hht/details.html]
Diverse types of EPILEPSY can be caused by mutations in the SCN1A gene. The SCN1A gene encodes for sodium channel brain type 1 alpha subunit. The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit and 2 smaller auxiliary beta subunits. Functional studies have indicated that the transmembrane alpha subunit of the brain sodium channels is sufficient for expression of functional sodium channels. The P137 probe mix included in this MLPA kit contains probes for all 26 exons of the SCN1A gene, as well as 14 control probes for sequences located in other genes. The SCN1A gene spans 82 Kb on chromosome 2q24.3. Several other SCN genes are located at close distance. This MLPA kit is designed to detect deletions / duplications of one or more exons of the SCN1A gene. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore always require confirmation by other methods. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 05; 02-01-2007 Last change in probe mix content: Lot 0107 (Jan 2007) Current Lot Number.: Lot 0107
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References 2006 -- A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.
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